← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 14-39033295-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=39033295&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 39033295,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006364.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23A",
"gene_hgnc_id": 10701,
"hgvs_c": "c.2242A>G",
"hgvs_p": "p.Ser748Gly",
"transcript": "NM_006364.4",
"protein_id": "NP_006355.2",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 765,
"cds_start": 2242,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000307712.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006364.4"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23A",
"gene_hgnc_id": 10701,
"hgvs_c": "c.2242A>G",
"hgvs_p": "p.Ser748Gly",
"transcript": "ENST00000307712.11",
"protein_id": "ENSP00000306881.6",
"transcript_support_level": 1,
"aa_start": 748,
"aa_end": null,
"aa_length": 765,
"cds_start": 2242,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006364.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307712.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23A",
"gene_hgnc_id": 10701,
"hgvs_c": "n.2437A>G",
"hgvs_p": null,
"transcript": "ENST00000554615.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000554615.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23A",
"gene_hgnc_id": 10701,
"hgvs_c": "c.2314A>G",
"hgvs_p": "p.Ser772Gly",
"transcript": "ENST00000857742.1",
"protein_id": "ENSP00000527801.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 789,
"cds_start": 2314,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857742.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23A",
"gene_hgnc_id": 10701,
"hgvs_c": "c.2242A>G",
"hgvs_p": "p.Ser748Gly",
"transcript": "ENST00000857743.1",
"protein_id": "ENSP00000527802.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 765,
"cds_start": 2242,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857743.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23A",
"gene_hgnc_id": 10701,
"hgvs_c": "c.2242A>G",
"hgvs_p": "p.Ser748Gly",
"transcript": "ENST00000919376.1",
"protein_id": "ENSP00000589435.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 765,
"cds_start": 2242,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919376.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23A",
"gene_hgnc_id": 10701,
"hgvs_c": "c.2242A>G",
"hgvs_p": "p.Ser748Gly",
"transcript": "ENST00000945648.1",
"protein_id": "ENSP00000615707.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 765,
"cds_start": 2242,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945648.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23A",
"gene_hgnc_id": 10701,
"hgvs_c": "c.2239A>G",
"hgvs_p": "p.Ser747Gly",
"transcript": "ENST00000945650.1",
"protein_id": "ENSP00000615709.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 764,
"cds_start": 2239,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945650.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23A",
"gene_hgnc_id": 10701,
"hgvs_c": "c.2182A>G",
"hgvs_p": "p.Ser728Gly",
"transcript": "ENST00000857741.1",
"protein_id": "ENSP00000527800.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 745,
"cds_start": 2182,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857741.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23A",
"gene_hgnc_id": 10701,
"hgvs_c": "c.2161A>G",
"hgvs_p": "p.Ser721Gly",
"transcript": "ENST00000945652.1",
"protein_id": "ENSP00000615711.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 738,
"cds_start": 2161,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945652.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23A",
"gene_hgnc_id": 10701,
"hgvs_c": "c.2155A>G",
"hgvs_p": "p.Ser719Gly",
"transcript": "ENST00000545328.6",
"protein_id": "ENSP00000445393.2",
"transcript_support_level": 2,
"aa_start": 719,
"aa_end": null,
"aa_length": 736,
"cds_start": 2155,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545328.6"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23A",
"gene_hgnc_id": 10701,
"hgvs_c": "c.2152A>G",
"hgvs_p": "p.Ser718Gly",
"transcript": "ENST00000945651.1",
"protein_id": "ENSP00000615710.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 735,
"cds_start": 2152,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945651.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23A",
"gene_hgnc_id": 10701,
"hgvs_c": "c.1813A>G",
"hgvs_p": "p.Ser605Gly",
"transcript": "ENST00000857740.1",
"protein_id": "ENSP00000527799.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 622,
"cds_start": 1813,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857740.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23A",
"gene_hgnc_id": 10701,
"hgvs_c": "c.1636A>G",
"hgvs_p": "p.Ser546Gly",
"transcript": "ENST00000537403.5",
"protein_id": "ENSP00000444193.1",
"transcript_support_level": 2,
"aa_start": 546,
"aa_end": null,
"aa_length": 563,
"cds_start": 1636,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537403.5"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23A",
"gene_hgnc_id": 10701,
"hgvs_c": "c.1213A>G",
"hgvs_p": "p.Ser405Gly",
"transcript": "ENST00000945649.1",
"protein_id": "ENSP00000615708.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 422,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945649.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23A",
"gene_hgnc_id": 10701,
"hgvs_c": "c.2314A>G",
"hgvs_p": "p.Ser772Gly",
"transcript": "XM_005267262.2",
"protein_id": "XP_005267319.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 789,
"cds_start": 2314,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267262.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23A",
"gene_hgnc_id": 10701,
"hgvs_c": "n.613A>G",
"hgvs_p": null,
"transcript": "ENST00000555363.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000555363.1"
}
],
"gene_symbol": "SEC23A",
"gene_hgnc_id": 10701,
"dbsnp": null,
"frequency_reference_population": 6.844702e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8447e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8646467328071594,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.907,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9064,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.56,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.822,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006364.4",
"gene_symbol": "SEC23A",
"hgnc_id": 10701,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.2242A>G",
"hgvs_p": "p.Ser748Gly"
}
],
"clinvar_disease": "SEC23A-related disorder",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "SEC23A-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}